title: Animal models of Lesch-Nyhan syndrome.
abstract: In humans, deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) is associated with a disorder known as Lesch-Nyhan syndrome which includes severe neurobehavioral abnormalities. Several animal models which have been developed to examine the neurobiologic substrates of this disorder have suggested a role for abnormal function in purine/dopamine neurotransmission, but the relationship between HPRT-deficiency and these abnormalities remains unknown. Recently, HPRT-deficient mice have been produced which appear to have similar, though more subtle changes in brain dopamine function. These mice will be useful in elucidating the relationship between HPRT-deficiency and the neurological deficits observed in patients with this disorder.
authors.affiliation: Department of Neurosciences, UCSD School of Medicine, La Jolla 92093.
authors.forename: H A
authors.initials: HA
authors.lastname: Jinnah
authors.forename: F H
authors.initials: FH
authors.lastname: Gage
authors.forename: T
authors.initials: T
authors.lastname: Friedmann
mesh_terms: D004195:Disease Models, Animal; D006801:Humans; D007926:Lesch-Nyhan Syndrome / Q000503:physiopathology*